"Revvity Omics, Revvity"[submitter] AND "AMT"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439033	NM_000481.4(AMT):c.1033+5G>A	AMT	Single nucleotide variant (intron variant)	Glycine encephalopathy 2	GUncertain significance
Select item 11979	NM_000481.4(AMT):c.959G>A (p.Arg320His)	AMT (R320H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 556278	NM_000481.4(AMT):c.958C>T (p.Arg320Cys)	AMT (R320C +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GPathogenic/Likely pathogenic
Select item 550886	NM_000481.4(AMT):c.794G>A (p.Arg265His)	AMT (R265H +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +2 more	GPathogenic/Likely pathogenic
Select item 531771	NM_000481.4(AMT):c.635T>C (p.Val212Ala)	AMT (V212A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1323886	NM_000481.4(AMT):c.472-2A>T	AMT	Single nucleotide variant (splice acceptor variant)	Glycine encephalopathy 2	GLikely pathogenic
Select item 56232	NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)	AMT	Deletion (inframe_deletion +2 more)	Neurodevelopmental delay +3 more	GPathogenic/Likely pathogenic
Select item 2441374	NM_000481.4(AMT):c.339+2T>C	AMT	Single nucleotide variant (splice donor variant)	Glycine encephalopathy 2 +1 more	GLikely pathogenic
Select item 1323888	NM_000481.4(AMT):c.3G>A (p.Met1Ile)	NICN1, AMT (M1I)	Single nucleotide variant (missense variant +3 more)	Glycine encephalopathy 2	GLikely pathogenic